single nucleotide variant | NM_000548.5(TSC2):c.976-10C>A | TSC2 | Likely pathogenic | 16 | 2110661 | 2110661 | C | A | criteria provided, single submitter | ClinGen:CA645373023 |
single nucleotide variant | NM_000548.5(TSC2):c.1954G>T (p.Glu652Ter) | TSC2 | Pathogenic | 16 | 2121792 | 2121792 | G | T | criteria provided, single submitter | ClinGen:CA394273590 |
Duplication | NM_000548.5(TSC2):c.4149dup (p.Lys1384fs) | TSC2 | Pathogenic | 16 | 2134371 | 2134372 | G | GC | criteria provided, single submitter | ClinGen:CA645373025 |
single nucleotide variant | NM_000548.5(TSC2):c.5259+2T>G | TSC2 | Likely pathogenic | 16 | 2138328 | 2138328 | T | G | criteria provided, single submitter | ClinGen:CA394314832 |
Duplication | NC_000016.10:g.2074199_2088611dup | TSC2 | Pathogenic | 16 | 2124200 | 2138612 | na | na | criteria provided, single submitter | - |
Deletion | NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs) | TSC2 | Pathogenic/Likely pathogenic | 16 | 2126513 | 2126514 | CTT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA645509207 |
Indel | NM_000368.5(TSC1):c.1698_1704delinsGC (p.Ala567fs) | TSC1 | Likely pathogenic | 9 | 135781261 | 135781267 | TCCCGCA | GC | criteria provided, single submitter | ClinGen:CA645509435 |
single nucleotide variant | NM_000368.5(TSC1):c.1029+2T>C | TSC1 | Likely pathogenic | 9 | 135786838 | 135786838 | A | G | criteria provided, single submitter | ClinGen:CA375368371 |
single nucleotide variant | NM_000368.5(TSC1):c.1264-1G>A | TSC1 | Pathogenic/Likely pathogenic | 9 | 135782758 | 135782758 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA375366235 |
Duplication | NM_000368.5(TSC1):c.1125dup (p.Val376fs) | TSC1 | Likely pathogenic | 9 | 135786404 | 135786405 | C | CT | criteria provided, single submitter | ClinGen:CA658657923 |